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14. Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency

Author

Morris, A.A., Kozich, V., Santra, S., Andria, G., Ben-Omran, T.I., Chakrapani, A.B., Crushell, E., Henderson, M.J., Hochuli, M., Huemer, M., Janssen, M.C.H., Maillot, F., Mayne, P.D., McNulty, J., Morrison, T.M., Ogier, H., O'Sullivan, S., Pavlikova, M., Almeida, I.T. de, Terry, A., Yap, S., Blom, H.J., Chapman, K.A., Morris, A.A., Kozich, V., Santra, S., Andria, G., Ben-Omran, T.I., Chakrapani, A.B., Crushell, E., Henderson, M.J., Hochuli, M., Huemer, M., Janssen, M.C.H., Maillot, F., Mayne, P.D., McNulty, J., Morrison, T.M., Ogier, H., O'Sullivan, S., Pavlikova, M., Almeida, I.T. de, Terry, A., Yap, S., Blom, H.J., and Chapman, K.A.

Abstract

Contains fulltext : 169680.pdf (publisher's version ) (Open Access), Cystathionine beta-synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed. Severely affected patients usually present in childhood with ectopia lentis, learning difficulties and skeletal abnormalities. These patients generally require treatment with a low-methionine diet and/or betaine. In contrast, mildly affected patients are likely to present as adults with thromboembolism and to respond to treatment with pyridoxine. In this article, we present recommendations for the diagnosis and management of CBS deficiency, based on a systematic review of the literature. Unfortunately, the quality of the evidence is poor, as it often is for rare diseases. We strongly recommend measuring the plasma total homocysteine concentrations in any patient whose clinical features suggest the diagnosis. Our recommendations may help to standardise testing for pyridoxine responsiveness. Current evidence suggests that patients are unlikely to develop complications if the plasma total homocysteine concentration is maintained below 120 mumol/L. Nevertheless, we recommend keeping the concentration below 100 mumol/L because levels fluctuate and the complications associated with high levels are so serious.

Published
2017

15. List of contributors

Author

Aghayan, I., Al-Adham, Khaleel, Asgharian Jeddi, Ali Asghar, Bhogayata, Ankur C., Bonifazi, Giuseppe, Calzada-Pérez, Miguel Ángel, Colangelo, Francesco, Dalhat, M.A., Elkordi, A., Farina, Ilenia, Foti, Dora, Habib, M.A., Hama, Sheelan M., Herki, B.A., Hilal, Nahla N., Indacoechea-Vega, I., Jamshidi, Masoud, Kaliyavaradhan, Senthil Kumar, Khafajeh, R., Khatib, J.M., Kocakerim, M.M., Korucu, H., La Marca, Floriana, Lastra-González, Pedro, Ling, Tung-Chai, Lupo, Emanuela, Malkapur, Santhosh M., Masirin, Mohd Idrus Mohd, Memarian, Farnaz, Mohammed, A.A., Moroni, Monica, Narasimhan, Mattur C., Pacheco-Torgal, F., Pakravan, Hamid Reza, Pavlík, Z., Pavlíková, M., Saghafi, Amir Masoud, Sarang, Goutham, Serranti, Silvia, Şimşek, B., Tuladhar, Rabin, Usman, Nura, Uygunoğlu, T., Vila-Cortavitarte, Marta, Yin, Shi, and Záleská, M.

Published
2019
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16. Ethnic Minority Media in Russia, the UK, Germany, Spain, Estonia and the Nordic Countries

Author

Ellefson, Merja, Agirreazkuenaga, I., Ferrández Ferrer, A., Graf, H., Pavlikova, M., Ellefson, Merja, Agirreazkuenaga, I., Ferrández Ferrer, A., Graf, H., and Pavlikova, M.

Abstract

Our aim is to examine how ethnic minority media emerged and became a factor in the development of media landscapes. What media is minority media? How important are societal contexts in different countries or regions? What key factors, forces and processes shape the minority media landscape? What differences and similarities can be identified, and explained? We discuss media produced by or for ethnic minorities, beginning with the foundation of minority language periodicals, and moving on to radio and television programming. We also discuss representation of ethnic minorities in mainstream media, and ethnic diversity - or lack thereof - in media companies. Finally, the emergence of broadcast media led to demands for minority programming, which has gradually expanded in the wake of migration and recognition of national minorities. Minority media, public or private, is vulnerable in times of economic crisis. Digitalization has opened new possibilities. But, the Internet is dominated by majority languages (Cunliff 2007). In the late 19th century Europe technological innovations and favorable conditions created flourishing press markets. Ethnic or nationalistic activists followed suit, founding the first periodicals. However, multiple changes in borders, state formations and central concepts make it difficult to determine which ethnic groups can be seen as minorities. There are no universal definitions of ‘minority’, ‘indigenous people’ or ’migrants’. The concept of ‘minority’ arose in the aftermath of WWI and signing of first minority treaties (Jackson 1998). But, how do we conceptualize ethnic groups in the 19th century multiethnic conglomerate states? Such states either didn’t have ethnic majorities, or people weren’t conceptualized in that manner. We use the term ‘ethnic minority’, to encompass migrants, national minorities and indigenous people. Some ethnic communities changed status from minority to majority, or vice versa. Estonians, Russians and Finns are examp

Published
2016

18. Advances in the Preclinical Study of Ischemic Stroke

Author

Yamagata, K., Dreyer, A., Stroh, A., Pösel, C., Findeisen, M., von Geymüller, T., Lobsien, D., Nitzsche, B., Boltze, J., Bouet, V., Freret, T., Mazensky, D., Danko, J., Pilipcinec, E., Petrovova, E., Luptakova, L., Costain, W. J., Haqqani, Arsalan S., Ingrid, Rasquinha, Giguere, M., Slinn, J., Li, V., Bi, X., Szelemej, P., Kong, J., Yang, W., Li, G., Hyun Yoo, J., Tawfik, V. L., White, R. E., Giffard, R., Erlykina, E., Sergeeva, T., Iwata, N., Okazaki, M. i., Nakano, R., Kasahara, C., Kamiuchi, S., Suzuki, F., Iizuka, H., Matsuzaki, H., Hibino, Y., Lehotsky, J., Pavlikova, M., Straka, S., Kovalska, M., Kaplan, P., Tatarkova, Z., Gudz, T. I., Novgorodov, S. A., Cervantes, M., González Burgos, I., Letechipía Vallejo, G., Olvera Cortés, M. E., Moralí, G., Silva Islas, C., Santana, R. A., Colín González, A. L., Maldonado, P. D., Mccabe, J. T., Bentley, M. W., O’Sullivan, J. C., Balestrino, Maurizio, Adriano, ENRICO GIOVANNI, Garbati, P., Shibuya, M., Meda, K., Ikeda, A., Piazza, O., Scarpati, G., Cai, W., Sokabe, M., Chen, L., Chanana, V., Sun, D., Ferrazzano, P., Benetti, E., Patel, N., and Collino, M.

Published
2012

19. General anaesthesia versus local anaesthesia for carotid surgery (GALA): a multicentre, randomised controlled trial

Author

GALA Trial Collaborative Group, C Lewis, S, P Warlow, C, R Bodenham, A, Colam, B, M Rothwell, P, Torgerson, D, Dellagrammaticas, D, Horrocks, M, Liapis, C, P Banning, A, Gough, M, J Gough, M, Fraser, A, Grant, S, Hunter, J, Leigh-Brown, A, Paterson, M, Soosay, V, Young, A, Williamson, A, Dean, Z, Mazzoli, T, Ricci, S, Valenti, D, Bamford, J, Beard, J, Dearden, M, Murray, G, Ruckley, V, E Norman, P, Sedivy, P, Idla, A, Schmitz-Rixen, T, Maritati, G, Bodenham, A, Cokic, N, Doppler, W, Hlatky, P, Koelblinger, C, Raith, C, Zölss, C, Dimmitt, S, Gharbi, R, Hankey, G, Maden, A, P Mwipatayi, B, Sieunarine, K, Tan, A, Turner, G, Wesseldine, A, T M, E Davis, Audzei, P, Davidovski, I, Dedul, D, Hetsiuk, A, Kornievich, S, Gao, J, Y-G, Huang, Jing, G, H, Li, Y-J, Li, Liu, B, C-W, Liu, J-D, Wu, W, Ye, C-H, Yu, Ban, T, Buljan, K, Candrlic, K, Dapic, D, Ilijasevic, M, Istvanic, T, Kovac, B, Kvolik, S, Lehner, V, Pinotic, K, Hudorović, N, Ivanec, Z, Lovricević, I, Mazul-Sunko, B, Novotny, Z, D De Syo, Vuković, V, Biebl, O, Dolecek, L, C El Samman, Kalasova, H, Kubricht, V, Matous, P, Michalek, P, Stajnrt, M, Stern, M, Svec, M, Vitasek, P, Vrzal, J, Weiss, K, Janousek, L, Kieslichova, E, Mazarova, V, Piza, P, Vychodil, P, Dulovcova, V, Fiksa, J, Hruby, J, Maresch, M, Mathias, M, Rubes, D, Tosenovsky, P, Vidim, T, Henzl, M, Riman, J, Ziegler, Z, Drabek, P, Hrbac, T, Reguli, S, Stigler, J, Bachleda, P, Drac, P, Hudecek, M, Koutna, J, Sanak, D, Utikal, P, Goldemund, D, Gregor, Z, Pavlikova, J, Podlaha, J, Privara, M, Staffa, R, Vlachovsky, R, Barankova, L, Chlouba, V, Fiedler, J, Prazak, P, Priban, V, Wierer, A, Ellervee, T, Järve, H, Sell, A, Taba, P, Kolbassov, V, Kullamaa, S, Paavel, T, Abramishvili, N, Bokuchava, M, Kachapuridze, N, Kipiani, K, Papashvili, K, Pargalava, N, Adili, F, Dietz, A, Neidhart, G, Nentwig, G, M Sitzer, O, Beno, M, Essink-Hassels, M, Lander, K, Ruemenapf, G, Breuer, P, Heldt, R, Melichar, G, Rieper, J, H Eckstein, H, Poppert, H, Schneider, G, Andrikopoulos, V, Angel, A, Bakogiannis, K, Dermitzaki, M, Georgakis, P, Lioupis, C, Maras, D, G Moulakakis, K, Sfyroeras, G, Arato, E, Gyevnar, Z, Hardi, P, Kasza, G, Kollar, L, Menyhei, G, Pal, E, Sinay, L, Verzar, Z, Volgyi, E, S Elmakias, S, Harah, E, Kristal, K, Lebi, D, Leonty, Y, Levy, D, Milo, R, Yoffe, B, Bissi, M, Cappellini, B, Cassamali, T, Corino, L, Denkewitz, T, Ghilardi, G, Massetto, N, P Di Mauro, Tommasino, C, Bartolucci, R, Buffa, V, M Corsi, F, D'Avino, E, F Di Cesare, L Di Pirro, Lappa, A, Luzzi, S, Menichetti, A, Nesi, F, Pannone, A, Picozzi, P, Pogany, G, Rabitti, G, Severi, L, Avella, R, Biandolino, P, P Giomarelli, P, R Monfregola, M, Palasciano, G, Peccianti, V, Pieragalli, D, Setacci, C, Setacci, F, Sirignano, P, Bordoni, M, Casadei, V, Cugnasca, M, A De Troia, Geremia, L, Guffanti, P, G Lo Guercio, V Maniaci, M, Mauri, Morbidelli, A, Aletta, A, Costanzo, E, D'Arrigo, G, F Di Stefano, Lomeo, A, Maugeri, S, C Monea, M, Scardavilli, G, Scolaro, A, Aloisi, P, Ciccozzi, A, Manno, M, Marrelli, A, Martinazzo, C, Mastromarino, A, Petrassi, C, Piroli, A, Spartera, C, Ventura, M, Alessandrini, F, Carissimi, C, M Centritto, E, Cinelli, G, C De Filippo, Liberatoscioli, G, Modugno, P, Rossi, M, T Attanzio, M, Bajardi, G, Bellisi, M, Machi, P, Salemi, S, Savettieri, G, A Crea, M, V di Lazzaro, Ferrante, A, Guarneri, S, Manni, R, Snider, F, Stefanuto, C, Berardi, G, Bianchi, A, Comis, M, Cumbo, P, Fadde, M, Ferrero, E, Ferri, M, Filardo, A, Gaggiano, A, Ganzaroli, M, Labate, C, Maggio, D, Mennuti, G, Minicucci, S, Musso, A, Nessi, F, Pasquino, M, Perretta, L, Piazza, S, Verdecchia, C, Viazzo, A, Antico, A, Battan, E, Ciarlo, M, Giardini, G, G Luca Iob, Marinello, C, Piccolo, D, Bove, R, Castrucci, T, Lorido, A, Sammarco, S, Bruzzone, B, Cannata, D, Colotto, P, Finocchi, C, Giudici, N, Mambrini, S, Mazzei, R, Palombo, D, Pellegrino, A, Rousas, N, Viacava, A, Ermirio, D, Faga, D, Simoni, G, Benedetti-Valentini, F, Gabrielli, R, Garofano, R, Gossetti, B, Guerricchio, R, Irace, L, Lenzi, G, Gedins, M, Kisis, K, Krievins, D, Krustina, I, Lietuvietis, E, Malina, M, Morlata, N, Rits, J, Thor, S, Ivanova, P, Kikule, I, Liepa, V, Ligers, A, Stengrevica, N, Vnukova, N, Zvirgzdins, V, P J A, M Brouwers, H Geelkerken, R, Stam, A, M A, M Simon, T den Hoed, P, Oltmans, M, Rettig, H, F Veen, H, Zuidgeest, D, Feldo, M, Kesik, J, Kobusiewicz, W, Łatkiewicz, D, Myślinski, W, Przywara, S, Terlecki, P, Wroński, J, Zubilewicz, T, Alfonso, G, Azevedo, E, R de Albuquerque, Mansilha, A, Al-Salman, M, K Aldaif, A, A Alnasr, T, A El Dawlatly, A, Elkayali, A, M Rabee, H, Chudikova, E, Chudá, I, Dulka, T, Goldenberg, Z, Lofaj, P, Pavlikova, M, Pisar, M, Sefranek, V, Slysko, R, Tomka, J, Tóthová, Z, Zita, Z, A Cairols, M, Iborra, E, Mercadal, M, Rubio, F, Canovas, D, Cobo, L, Gimenez-Gaibar, A, Gonzalez, E, Gonzalo, B, Guilera, N, Hospedales, J, J Laso, M, Perez, J, Solanich, T, Hensater, M, Karlström, L, Kjällman, L, Rosengren, L, C-A, Ewaldsson, Gillgren, P, T-B, Käll, Konrad, P, Lindkvist, M, Nilsson, L, Takolander, R, E von Zweigbergk, Cinar, B, Coruh, T, Kurc, E, Ozsoy, D, Sargin, M, Tutkavul, K, Yekeler, I, Aksoy, M, Aksoy, S, Kurtoglu, M, Arar, C, Canbaz, S, Celik, Y, Ege, T, Ketenc, S, Sunar, H, Unal, S, Asik, I, Bengisun, U, Koksoy, C, Yucemen, N, C Berridge, D, Caldicott, L, Cooper, J, Cross, M, Ford, H, Fuller, R, Gamlin, F, Homer-Vanniasinkum, S, Howell, S, Kent, P, Lumb, A, A I, D Mavor, D J, A Scott, Shah, M, Wanklyn, P, S Budd, J, Mcateer, P, Shaw, L, Dewar, R, H Lewis, M, Potter, C, Richards, H, Roberts, R, Townsend, E, Wagle, A, Woodford, P, Hall, G, Holdsworth, R, Macleod, M, Michels, L, P A, G Sandercock, Sudlow, C, Woods, A, S Abraham, J, Bukhari, M, Bush, A, Calvey, J, Chadwick, I, Krishnaprasad, K, Oldham, T, Tomlinson, M, Vickers, A, Wilson, D, Wilson, P, Greystone, S, C Grocott, E, Hayes, W, Haynes, S, Jenkins, C, Jenkins, D, Moore, W, Nyamekye, I, Overstall, P, Riseboro, S, Williams, H, Boyle, J, Duane, D, Gaunt, M, J Kirkpatrick, P, Martin, P, E Risdall, J, Scurrah, N, L Turner, C, Varty, K, T Ferguson, I, Horsfall, S, C Mitchell, D, Robinson, S, Frankel, J, E Morris, G, Phillips, M, Sansome, A, J Sparkes, D, Williams, J, Ashton, W, Baker, S, Clark, M, G Darke, S, Dunnill, R, Hargreaves, M, Jenkinson, D, Thomson, C, White, N, D Wijesinghe, L, Bapat, P, A Barrett, J, D Blair, S, Chandrasekar, R, Lawrence, G, Lowe, D, Sangster, G, Smith, M, M Van Miert, K Das, S, Malik, O, Nel, M, Rakowicz, W, Aukett, M, Carmichael, M, Colchester, A, R Taylor, P, Wood, C, Ageed, A, J Boom, S, Ghosh, S, Godfrey, J, Hewitt-Gray, J, Mcdiarmid, I, Yousif, S, Ziarkowski, A, Al-Din, A, Carpenter, M, Ch'Ng, K, J Curley, P, Davey, R, Henderson, B, F Hossain, J, D Irvine, C, Loizou, L, Main, A, Stanners, A, Muldoon, T, V Soong, C, Wiggam, I, P Armon, M, Burrows, M, Holmes, L, K Metcalf, A, Nunn, D, Abdul-Hamid, A, Akomalafe, B, Bryce, J, Chetter, I, Samaan, A, Briley, D, Collin, J, Darby, C, Dobson, M, Foex, P, Grange, C, Handa, A, Hands, L, E Higham, H, J M, T Perkins, Sear, J, Stoneham, M, Hamilton, G, Judge, C, Morris-Vincent, P, Pegg, M, A Wilson, L, I Aldoori, M, B E, A Dafalla, Kumar, N, I F, C Hay, Jefferson, P, Muir, I, Peel, W, Rutherford, J, Sathianathan, J, Wight, S, Williams, D, Wrathall, W, Bachoo, P, Brittenden, J, Counsell, C, Patey, R, Read, J, L de Cossart, K Dimitri, S, Edwards, P, Fergusson, N, Jameson, P, Somauroo, J, Taylor, V, D Aravindan, P, Brocklehurst, I, Mirza, S, N Namushi, R, O Oshodi, T, Ruff, D, A Solomon, S, Vassallo, J, Egbe, M, Halstead, G, Onwudike, M, Putland, A, Roberts, N, A Salaman, R, Watson, D, Caine, S, Day, J, Lamont, P, J Murphy, P, Smith, F, Beacham, K, J Dorman, P, Lambert, D, Rodgers, H, Collas, D, Sarin, S, Shah, J, S Baht, H, Banks, J, Cowie, L, Gunathilagan, G, Hargroves, D, Insall, R, G Smithard, D, K Chadha, D, R Pillay, W, Rashid, J, Sayles, J, Hill, S, Lawton, G, M Lloyd, C, Marsh, A, Clarke, G, J Lonsdale, R, Venables, G, Cross, R, Lord, B, Mcilmoyle, J, Y Osman, H, Robinson, J, Chant, H, Mate, A, Sim, D, Upton, P, Thomas, D, H Wolfe, J, Mccollum, C, O'Neill, P, Bernatsky, V, Bondar, L, Karpenko, A, Mamonova, M, Muz, N, and Yavorsky, V

Subjects
Male, medicine.medical_specialty, medicine.medical_treatment, Carotid endarterectomy, general anesthesia, local anesthesia, carotid surgery, Anesthesia, General, law.invention, Postoperative Complications, Randomized controlled trial, law, medicine, Humans, Carotid Stenosis, General anaesthesia, general anaesthesia, Stroke, Aged, Endarterectomy, Endarterectomy, Carotid, local anaesthesia, Intention-to-treat analysis, business.industry, General Medicine, Perioperative, Vascular surgery, medicine.disease, Surgery, Anesthesia, Female, business, Anesthesia, Local
Abstract

BACKGROUND: The effect of carotid endarterectomy in lowering the risk of stroke ipsilateral to severe atherosclerotic carotid-artery stenosis is offset by complications during or soon after surgery. We compared surgery under general anaesthesia with that under local anaesthesia because prediction and avoidance of perioperative strokes might be easier under local anaesthesia than under general anaesthesia. METHODS: We undertook a parallel group, multicentre, randomised controlled trial of 3526 patients with symptomatic or asymptomatic carotid stenosis from 95 centres in 24 countries. Participants were randomly assigned to surgery under general (n=1753) or local (n=1773) anaesthesia between June, 1999 and October, 2007. The primary outcome was the proportion of patients with stroke (including retinal infarction), myocardial infarction, or death between randomisation and 30 days after surgery. Analysis was by intention to treat. The trial is registered with Current Control Trials number ISRCTN00525237. FINDINGS: A primary outcome occurred in 84 (4.8%) patients assigned to surgery under general anaesthesia and 80 (4.5%) of those assigned to surgery under local anaesthesia; three events per 1000 treated were prevented with local anaesthesia (95% CI -11 to 17; risk ratio [RR] 0.94 [95% CI 0.70 to 1.27]). The two groups did not significantly differ for quality of life, length of hospital stay, or the primary outcome in the prespecified subgroups of age, contralateral carotid occlusion, and baseline surgical risk. INTERPRETATION: We have not shown a definite difference in outcomes between general and local anaesthesia for carotid surgery. The anaesthetist and surgeon, in consultation with the patient, should decide which anaesthetic technique to use on an individual basis. FUNDING: The Health Foundation (UK) and European Society of Vascular Surgery.

Published
2008

31. Physical therapy provision in multiple sclerosis across Europe: A regional lottery?

Author

Rasova, K., Patricia Martinkova, Pavlikova, M., Cattaneo, D., Jonsdottir, J., Henze, T., Baert, I., Asch, P., Santoyo, C., Smedal, T., Beiske, A. G., Stachowiak, M., Kovalewski, M., Nedeljkovic, U., Bakalidou, D., Alves-Guerreiro, J., Nilsagard, Y., Dimitrova, E. N., Habek, M., Armutlu, K., Donze, C., Ross, E., Ilie, A. M., Martic, A., Freeman, J., Romberg, A., and Feys, P.

32. Life cycle assessment of the use of sewage sludge as Portland cement replacement

Author

Pavlik, Z, Pavlikova, M, Zaleska, M, Lagod, G, Suchorab, Z, and Guz, L

Abstract

In this paper, we proposed an alternative thermal treatment of sewage sludge, aimed at its application in blended cements, which can reduce the energy demands and requires less technologically sophisticated processing. The life cycle assessment (LCA) was performed to quantify the environmental impact of the sewage sludge used as a partial cement replacement. The LCA was focused on the CO2 emission and energy consumption. The functional unit of 1 m3 of blended mortars composed of Portland cement CEM I 42.5, silica sand, and thermally treated sewage sludge, where the sludge was used as partial cement substitute in a dosage of 10, 20, and 30% by mass of cement, was analyzed. The positive effect of the use of sewage sludge as a partial cement replacement with respect to the energy consumption and GHG emission, considering the compressive strength of the analyzed composites, was quite apparent. The decrease of energy consumption necessary for the production of the analyzed blended binders was nearly 10% per each 10% of sewage sludge used as Portland cement replacement. The energy needed for the sludge thermal treatment at 700degC was 220 MJ/t. The emission of GHG related to the sludge thermal treatment was 40kg/t. The presented data were strongly affected by the applied distribution of electricity sources, with a high share of coal combustion plants.

Published
2019

33. Evaluation of the size effect of waste tyre rubber particles on properties of lightweight rubber concrete

Author

Zaleska, M, Pavlikova, M, Citek, D, and Pavlik, Z

Abstract

Due to the increasing amount of waste tyres and also to their properties, it is necessary to look for suitable ways for their recycling. For production of rubber concrete, the crushed tyre rubber of fraction 0/4 and 4/8 was used for partial substitution of silica sand at the rate of 10 % by mass. For comparison, a reference concrete without rubber aggregate was also studied. Both natural and rubber aggregate were first assessed in terms of their physical parameters and thermal transport and storage properties. Evaluation of produced lightweight rubber concrete included measurement of basic physical properties, strength tests, and microstructural analysis. Thermal properties were studied from dry to fully water saturated state. The experimental results showed that concrete with a small amount of rubber aggregate had improved thermal insulation performance and can serve as an eco-friendly material for structural applications in civil engineering.

Published
2019

34. Properties of cement-lime render containing perlite as lightweight aggregate

Author

Pokorny, J, Pavlikova, M, and Pavlik, Z

Abstract

Lightweight renders with improved thermal performance, resistant against moisture and respecting specific behaviour of original plasters and substrates became attractive materials for surface finishing of both historical and old wall structures. In this respect, structural, mechanical and thermal properties of cement-lime based renders containing a different amount of perlite as fine silica sand substitution are researched in the presented paper. Experimental tests conducted for 28 days samples showed significant lightening of hardened renders with increased perlite content in their fresh mix. Gained strength parameters were, because of higher total open porosity of perlite enriched samples, lower compared with reference material. On the other hand, newly developed lightweight renders exhibited improved thermal insulation performance due to the highly porous perlite particles. In summary, cement-lime renders with incorporated lightweight aggregate based on expanded perlite were considered as alternative and promising materials for application in repair and restoration of historical masonry.

Published
2019

35. Thermal Stability of Lightweight Concrete with Incorporated Regranulated Polypropylene Aggregate

Author

Scheinherrova, L, Zaleska, M, Pavlikova, M, and Pavlik, Z

Abstract

Plastic waste and its low recycling rate make a significant contribution towards the pollution of the environment. Therefore, it is essential that plastic waste is utilised in different applications, such as aggregates in concrete. Since the coefficient of thermal expansion of polypropylene (PP) is significantly higher than for the ordinary concrete, the resulting mismatch in thermal expansion behaviour of the lightweight concrete can cause many problems, especially when the external temperatures reach the higher values. In this paper, an investigation of a manufactured plastic aggregate as a partial replacement for natural silica aggregate in concrete is presented. For concrete manufacturing, regranulated polypropylene (R-PP) waste coming from PP pipes production was used for the partial replacement of silica sand in concrete mix composition by 10, 20 and 30 mass % respectively. The studied materials were heated up to 120 degC. The basic physical properties before and after thermal treatment were studied. To analyse the thermal strain and the coefficient of thermal expansion of the studied materials, the horizontal thermodilatometry was applied.

Published
2018

36. Effect of Waste Expanded Polypropylene-Based Aggregate on Mechanical and Thermal Properties of Lightweight Concrete

Author

Zaleska, M, Pavlikova, M, and, Studnicka, and Pavlik, Z

Abstract

Resource efficiency and building energy consumption is in recent years an open question for construction industry. Recycled plastic aggregate can be used as an alternative aggregate to produce lightweight concrete with low environmental impact of both concrete and waste plastic and moreover, the obtained lightweight concrete is characterized by improved thermal insulation properties. In the present study, waste expanded polypropylene (EPP) aggregate is used for partial replacement of natural aggregate to produce lightweight cement-based composites containing synthetic coagulated amorphous SiO2 as supplementary cementitious material. For the applied EPP, basic physical properties were measured and specific attention was paid to thermal transport and storage properties that were studied in dependence on compacting time. The effect of EPP content on the mechanical characteristics and on the thermal properties of developed material was investigated for 28 and 90 days water cured samples. Composite with incorporated EPP aggregates exhibits enhanced thermal insulation properties with sufficient mechanical resistance and can be considered as promising material for building subsoil or floor structures.

Published
2018

37. Synergy Action of Glass Powder and Foaming Additive in Production of Lightweight Cement-Based Materials

Author

Pokorny, J, Pavlikova, M, Zaleska, M, and, Studnicka, and Pavlik, Z

Abstract

Waste glass in the form of finely grounded powder can be, due to its assumed pozzolanic behaviour, used in cement and concrete industry as a Supplementary Cementing Material (SCM) helping to reduce the consumption of natural resources and emission of greenhouse gases. In this sense, the presented paper is focused on the use of waste borosilicate glass in production of cement-based lightweight composites. For both Portland cement and glass admixture, chemical composition, pozzolanic activity and basic physical characteristics were accessed. In composite mixes, cement binder was partially replaced with glass powder in the amount of 15 and 20 mass %. In order to produce lightweight materials, foaming agent in the amount of 0.58 ml/kg of blended binder was used. For the developed materials, bulk density, matrix density, total open porosity, mechanical resistance, water transport parameters and thermal properties were tested The obtained experimental results revealed pozzolanic activity of micro scale milled waste glass that led to the decrease in porosity and thus improved mechanical resistance of the investigated composites. High porosity of foamed concretes significantly improves their thermal-insulation function and helps to save raw materials for their production.

Published
2018

39. The Longer, the Better: Continuous Glucose Monitoring Use for ≥90% Is Superior to 70%-89% in Achieving Tighter Glycemic Outcomes in Children with Type 1 Diabetes.

Author

Santova A, Neuman V, Plachy L, Amaratunga SA, Pavlikova M, Romanova M, Konecna P, Neumann D, Kocourkova K, Strnadel J, Pomahacova R, Venhacova P, Skvor J, Obermannova B, Pruhova S, Cinek O, and Sumnik Z

Abstract

Objective: The recommended threshold for the time spent on continuous glucose monitoring (CGM) is established at 70%. However, glucose outcomes in children with type 1 diabetes (CwD) using CGM for a different proportion of time within this threshold have not been evaluated yet. The study aims to compare glycemic parameters among CwD who spent 70%-89% and ≥90% on CGM using the population-wide data from the Czech national pediatric diabetes registry ČENDA. Methods: CwD aged <19 years who used real-time CGM >70% of the time and did not change the type of therapy throughout the year 2023 were included and divided into two groups based on the time they spent on CGM-70%-89% versus ≥90%. HbA1c, times in standard glycemic ranges, mean glucose, and coefficient of variability (CV) were compared between the groups and by treatment modalities. Results: Data from 1977 CwD (1035 males and 942 females) were evaluated. Among them, 404 participants (20.4%) used CGM 70%-89% of the time, and 1573 participants (79.6%) ≥90% of the time. Compared with the 70-89% group, the ≥90% CGM users achieved significantly lower HbA1c levels (51 mmol/mol, 6.8% vs. 58 mmol/mol, 7.4%, P < 0.001), higher time in range (72% vs. 60%, P < 0.001), and lower mean glucose and CV (8.1 mmol/L, 146 mg/dL vs. 9.1 mmol/L, 164 mg/dL and 37% vs. 40%, respectively, both P < 0.001). Analogous results were seen irrespective of the treatment modality. The differences persisted after propensity score adjustment. Conclusion: CGM use for ≥90% is associated with tighter glycemic control compared with 70%-89% use. Therefore, it is essential to motivate CwD to use CGM for the longest possible time and search for suitable options to overcome barriers in uninterrupted CGM monitoring.

Published
2025
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40. Investigation of long non-coding RNAs in extracellular vesicles from low-volume blood serum specimens of colorectal cancer patients.

Author

Boudna M, Machackova T, Vychytilova-Faltejskova P, Trachtova K, Bartosova R, Catela Ivkovic T, Al Tukmachi D, Jugas R, Pifkova L, Orlickova J, Kotoucek J, Pavlikova M, Sachlova M, Bohovicova L, Stanek T, Halamkova J, Kiss I, Grolich T, Svoboda M, Kala Z, Souckova K, and Slaby O

Subjects
Humans, Serum, Biomarkers, RNA, Long Noncoding genetics, Extracellular Vesicles genetics, Neoplasms, Second Primary, Colorectal Neoplasms diagnosis, Colorectal Neoplasms genetics
Abstract

Colorectal cancer (CRC) is the second most prevalent cancer type worldwide, which highlights the urgent need for non-invasive biomarkers for its early detection and improved prognosis. We aimed to investigate the patterns of long non-coding RNAs (lncRNAs) in small extracellular vesicles (sEVs) collected from low-volume blood serum specimens of CRC patients, focusing on their potential as diagnostic biomarkers. Our research comprised two phases: an initial exploratory phase involving RNA sequencing of sEVs from 76 CRC patients and 29 healthy controls, and a subsequent validation phase with a larger cohort of 159 CRC patients and 138 healthy controls. Techniques such as dynamic light scattering, transmission electron microscopy, and Western blotting were utilized for sEV characterization. Optimized protocol for sEV purification, RNA isolation and preamplification was applied to successfully sequence the RNA content of sEVs and validate the results by RT-qPCR. We successfully isolated sEVs from blood serum and prepared sequencing libraries from a low amount of RNA. High-throughput sequencing identified differential levels of 460 transcripts between CRC patients and healthy controls, including mRNAs, lncRNAs, and pseudogenes, with approximately 20% being lncRNAs, highlighting several tumor-specific lncRNAs that have not been associated with CRC development and progression. The validation phase confirmed the upregulation of three lncRNAs (NALT1, AL096828, and LINC01637) in blood serum of CRC patients. This study not only identified lncRNA profiles in a population of sEVs from low-volume blood serum specimens of CRC patients but also highlights the value of innovative techniques in biomolecular research, particularly for the detection and analysis of low-abundance biomolecules in clinical samples. The identification of specific lncRNAs associated with CRC provides a foundation for future research into their functional roles in cancer development and potential clinical applications., (© 2024. The Author(s).)

Published
2024
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41. Subclavian Impella 5.5 implant for perioperative left ventricular dysfunction.

Author

Karner B, Arnreiter M, Zirngast B, Pavlikova M, Renz D, Yates A, and Zimpfer D

Subjects
Humans, Aged, Subclavian Artery, Cardiopulmonary Bypass, Treatment Outcome, Heart-Assist Devices, Cardiac Surgical Procedures, Ventricular Dysfunction, Left surgery
Abstract

We present the implant method and the postoperative management for an Impella 5.5 device via the right subclavian artery in a 72-year-old patient with severe left ventricular dysfunction upon weaning from cardiopulmonary bypass during a cardiac surgery procedure., (© The Author 2023. Published by MMCTS on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.)

Published
2023
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42. Long-term outcomes of intravenous fibrinolysis in central retinal artery occlusion.

Author

Kozner P, Eichenmann L, Ceska Burdova M, Pavlikova M, Hlozanek M, and Dotrelova D

Subjects
Humans, Thrombolytic Therapy adverse effects, Fibrin Clot Lysis Time, Administration, Intravenous, Treatment Outcome, Fibrinolysis, Retinal Artery Occlusion drug therapy
Abstract

Central retinal artery occlusion (CRAO) is an ophthalmologic emergency that can lead to irreversible loss of vision. Intravenous thrombolysis (IVT) has been used experimentally for its treatment. Our study aimed to evaluate the effect of emergency IVT on CRAO and its impact on visual acuity outcomes. We conducted a retrospective observational study of patients with CRAO. A total of 46 patients with CRAO were analysed; 16 patients received IVT treatment (IVT group) while 30 did not (no-IVT group). Seven patients from the IVT group received IVT early, within 4.5 hours (h) after the onset of symptoms (early-IVT), and 9 patients received it beyond this timeframe (late-IVT). The median time-to-hospital was 8.5 h: 3 h for the IVT group and 24 h for the no-IVT group. The median time-to-treatment was 5 h. The median outcome of visual acuity was 0.05 in the early-IVT, 0.025 in the late-IVT, and 0.01 in the no-IVT group. Among patients who received IVT early, 86% exhibited significant visual improvement. This improvement was four-fold greater compared to all other groups (p = 0.040), including the late-IVT (p = 0.011) and no-IVT groups (p = 0.023). No complications of the treatment were reported. Our study confirms that the administration of IVT treatment for CRAO within the 4.5-h time window is both safe and effective., (© 2023. The Author(s).)

Published
2023
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43. Are all HCL systems the same? long term outcomes of three HCL systems in children with type 1 diabetes: real-life registry-based study.

Author

Santova A, Plachy L, Neuman V, Pavlikova M, Petruzelkova L, Konecna P, Venhacova P, Skvor J, Pomahacova R, Neumann D, Vosahlo J, Strnadel J, Kocourkova K, Obermannova B, Pruhova S, Cinek O, and Sumnik Z

Subjects
Humans, Child, Glycated Hemoglobin, Blood Glucose, Cross-Sectional Studies, Insulin therapeutic use, Insulin Infusion Systems, Blood Glucose Self-Monitoring, Registries, Diabetes Mellitus, Type 1 drug therapy, Hypoglycemia chemically induced, Hypoglycemia epidemiology
Abstract

Objective: To compare parameters of glycemic control among three types of hybrid closed loop (HCL) systems in children with T1D (CwD) using population-wide data from the national pediatric diabetes registry ČENDA., Methods: CwD aged <19 years treated with Medtronic MiniMed 780G (780G), Tandem t:slim X2 (Control-IQ) or do-it-yourself AndroidAPS (AAPS) systems for >12 months and monitored by CGM >70% of the time were included. HbA1c, times in glycemic ranges, and Glycemia Risk Index (GRI) were used for cross-sectional comparison between the HCL systems., Results: Data from 512 CwD were analyzed. 780G, Control-IQ and AAPS were used by 217 (42.4%), 211 (41.2%), and 84 (16.4%) CwD, respectively. The lowest HbA1c value was observed in the AAPS group (44 mmol/mol; IQR 8.0, p<0.0001 vs any other group), followed by Control-IQ and 780G groups (48 (IQR 11) and 52 (IQR 10) mmol/mol, respectively). All of the systems met the recommended criteria for time in range (78% in AAPS, 76% in 780G, and 75% in Control-IQ users). CwD using AAPS spent significantly more time in hypoglycemia (5% vs 2% in 780G and 3% in Control-IQ) and scored the highest GRI (32, IQR 17). The lowest GRI (27, IQR 15) was seen in 780G users., Conclusion: Although all HCL systems proved effective in maintaining recommended long-term glycemic control, we observed differences that illustrate strengths and weaknesses of particular systems. Our findings could help in individualizing the choice of HCL systems., Competing Interests: ZS, LP and SP reported speakers’ honoraria from Medtronic, Abbott and A-Import. VN reported speakers’ honoraria from Medtronic. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be constructed as a potential conflict of interest., (Copyright © 2023 Santova, Plachy, Neuman, Pavlikova, Petruzelkova, Konecna, Venhacova, Skvor, Pomahacova, Neumann, Vosahlo, Strnadel, Kocourkova, Obermannova, Pruhova, Cinek and Sumnik.)

Published
2023
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44. A comprehensive validation study of the latest version of BoneXpert on a large cohort of Caucasian children and adolescents.

Author

Maratova K, Zemkova D, Sedlak P, Pavlikova M, Amaratunga SA, Krasnicanova H, Soucek O, and Sumnik Z

Subjects
Adolescent, Child, Female, Humans, Male, White People, Age Determination by Skeleton methods, Software
Abstract

Introduction: Automated bone age assessment has recently become increasingly popular. The aim of this study was to assess the agreement between automated and manual evaluation of bone age using the method according to Tanner-Whitehouse (TW3) and Greulich-Pyle (GP)., Methods: We evaluated 1285 bone age scans from 1202 children (657 scans from 612 boys) by using both manual and automated (TW3 as well as GP) bone age assessment. BoneXpert software versions 2.4.5.1. (BX2) and 3.2.1. (BX3) (Visiana, Holte, Denmark) were compared with manual evaluation using root mean squared error (RMSE) analysis., Results: RMSE for BX2 was 0.57 and 0.55 years in boys and 0.72 and 0.59 years in girls, respectively for TW3 and GP. For BX3, RMSE was 0.51 and 0.68 years in boys and 0.49 and 0.52 years in girls, respectively for TW3 and GP. Sex- and age-specific analysis for BX2 identified the largest differences between manual and automated TW3 evaluation in girls between 6-7, 12-13, 13-14 and 14-15 years, with RMSE 0.88, 0.81, 0.92 and 0.84 years, respectively. The BX3 version showed better agreement with manual TW3 evaluation (RMSE 0.64, 0.45, 0.46 and 0.57)., Conclusion: The latest version of the BoneXpert software provides improved and clinically sufficient agreement with manual bone age evaluation in children of both sexes compared to the previous version and may be used for routine bone age evaluation in non-selected cases in pediatric endocrinology care., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Maratova, Zemkova, Sedlak, Pavlikova, Amaratunga, Krasnicanova, Soucek and Sumnik.)

Published
2023
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45. Search for a time- and cost-saving genetic testing strategy for maturity-onset diabetes of the young.

Author

Dusatkova P, Pavlikova M, Elblova L, Larionov V, Vesela K, Kolarova K, Sumnik Z, Lebl J, and Pruhova S

Subjects
Humans, Mutation, Phenotype, Diabetes Mellitus, Type 2 diagnosis, Diabetes Mellitus, Type 2 genetics, Genetic Testing methods
Abstract

Aims: Correct genetic diagnosis of maturity-onset diabetes of the young (MODY) is beneficial for person's diabetes management compared to no genetic testing. Aim of the present study was a search for optimal time- and cost-saving strategies by comparing two approaches of genetic testing of participants with clinical suspicion of MODY., Methods: A total of 121 consecutive probands referred for suspicion of MODY (Group A) were screened using targeted NGS (tNGS), while the other 112 consecutive probands (Group B) underwent a single gene test based on phenotype, and in cases of negative findings, tNGS was conducted. The study was performed in two subsequent years. The genetic results, time until reporting of the final results and financial expenses were compared between the groups., Results: MODY was confirmed in 30.6% and 40.2% probands from Groups A and B, respectively; GCK-MODY was predominant (72.2% in Group A and 77.8% in Group B). The median number of days until results reporting was 184 days (IQR 122-258) in Group A and 91 days (44-174) in Group B (p < 0.00001). Mean costs per person were higher for Group A (639 ± 30 USD) than for Group B (584 ± 296 USD; p = 0.044)., Conclusions: The two-step approach represented a better strategy for genetic investigation of MODY concerning time and costs compared to direct tNGS. Although a single-gene investigation clarified the diabetes aetiology in the majority of cases, tNGS could reveal rare causes of MODY and expose possible limitations of both standard genetic techniques and clinical evaluation., (© 2022. Springer-Verlag Italia S.r.l., part of Springer Nature.)

Published
2022
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46. Quality of Life and Treatment Satisfaction in Participants with Maturity-Onset Diabetes of the Young: A Comparison to Other Major Forms of Diabetes.

Author

Dusatkova P, Pavlikova M, Spirkova A, Elblova L, Zdarska DJ, Rozenkova K, Hron J, Sumnik Z, Cinek O, Lebl J, and Pruhova S

Subjects
Adolescent, Adult, Child, Diabetes Mellitus, Type 1 psychology, Diabetes Mellitus, Type 1 therapy, Humans, Young Adult, Diabetes Mellitus, Type 2 psychology, Diabetes Mellitus, Type 2 therapy, Patient Satisfaction, Quality of Life
Abstract

Aims: We investigated the quality of life (QoL), treatment satisfaction and perception of genetic results in participants with Maturity-Onset Diabetes of the Young (MODY) and compared the results with those of subjects with type 1 (T1D) or type 2 (T2D) diabetes., Methods: A total of 162 adults with GCK-MODY, 62 with HNF1A-MODY and 29 with HNF4A-MODY answered the questionnaire Audit of Diabetes Dependent Quality of Life, the Diabetes Treatment Satisfaction Questionnaire and non-validated instrument examining the respondent's perception of the genetic results. Data from GCK-MODY patients were compared with 84 participants with T2D and HNF-MODY subjects were compared with 81 participants having T1D., Results: Higher age (p=0.004), higher haemoglobin A1c (p=0.026) and medication (p=0.019) were associated with lower general QoL in GCK-MODY patients. In HNF-MODY patients, lower general QoL was associated with a longer time since diagnosis (p=0.005), worse haemoglobin bA1c (p=0.006) and insulin treatment (p=0.019). Similar numbers of participants with GCK- and HNF-MODY considered the genetic diagnosis of MODY to be positive, negative and without significance. The patient with GCK-MODY did not differ from those with T2D in terms of their QoL, but they were less satisfied with their treatment (p<0.001). QoL was better in patients with HNF-MODY compared with patients with T1D (p=0.006), and they did not differ in terms of treatment satisfaction., Conclusions: QoL was affected in both GCK-MODY and HNF-MODY subjects. Apprehension of genetic diagnosis was not single-valued in MODY respondents., Competing Interests: The authors declare that they have no conflict of interest., (Thieme. All rights reserved.)

Published
2022
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47. Low-Carbohydrate Diet among Children with Type 1 Diabetes: A Multi-Center Study.

Author

Neuman V, Plachy L, Pruhova S, Kolouskova S, Petruzelkova L, Obermannova B, Vyzralkova J, Konecna P, Vosahlo J, Romanova M, Pavlikova M, and Sumnik Z

Subjects
Blood Glucose analysis, Body Height, Body Mass Index, Body Weight, Child, Diabetes Mellitus, Type 1 metabolism, Female, Glycated Hemoglobin analysis, Humans, Lipids blood, Male, Surveys and Questionnaires, Diabetes Mellitus, Type 1 diet therapy, Diet, Carbohydrate-Restricted adverse effects, Diet, Carbohydrate-Restricted statistics & numerical data
Abstract

Aims/hypothesis: The proportion of children with type 1 diabetes (T1D) who have experience with low-carbohydrate diet (LCD) is unknown. Our goal was to map the frequency of LCD among children with T1D and to describe their clinical and laboratory data., Methods: Caregivers of 1040 children with T1D from three centers were addressed with a structured questionnaire regarding the children's carbohydrate intake and experience with LCD (daily energy intake from carbohydrates below 26% of age-recommended values). The subjects currently on LCD were compared to a group of non-LCD respondents matched to age, T1D duration, sex, type and center of treatment., Results: A total of 624/1040 (60%) of the subjects completed the survey. A total of 242/624 (39%) subjects reported experience with voluntary carbohydrate restriction with 36/624 (5.8%) subjects currently following the LCD. The LCD group had similar HbA1c (45 vs. 49.5, p = 0.11), lower average glycemia (7.0 vs. 7.9, p = 0.02), higher time in range (74 vs. 67%, p = 0.02), lower time in hyperglycemia >10 mmol/L (17 vs. 20%, p = 0.04), tendency to more time in hypoglycemia <3.9 mmol/L(8 vs. 5%, p = 0.05) and lower systolic blood pressure percentile (43 vs. 74, p = 0.03). The groups did not differ in their lipid profile nor in current body height, weight or BMI. The LCD was mostly initiated by the parents or the subjects themselves and only 39% of the families consulted their decision with the diabetologist., Conclusions/interpretation: Low carbohydrate diet is not scarce in children with T1D and is associated with modestly better disease control. At the same time, caution should be applied as it showed a tendency toward more frequent hypoglycemia.

Published
2021
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48. Brain activity changes following neuroproprioceptive "facilitation, inhibition" physiotherapy in multiple sclerosis: a parallel group randomized comparison of two approaches.

Author

Prochazkova M, Tintera J, Spanhelova S, Prokopiusova T, Rydlo J, Pavlikova M, Prochazka A, and Rasova K

Subjects
Adult, Female, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Brain diagnostic imaging, Multiple Sclerosis diagnostic imaging, Multiple Sclerosis therapy, Physical Therapy Modalities
Abstract

Background: Imaging methods bring new possibilities for describing the brain plasticity processes that underly the improvement of clinical function after physiotherapy in people with multiple sclerosis (pwMS). Although these processes have been described mainly in connection with task-oriented physiotherapy and aerobic training, they have not been properly verified in neuroproprioceptive "facilitation, inhibition" (facilitation) approaches., Aim: The study determined whether facilitation physiotherapy could enhance brain plasticity, compared two facilitation methods and looked for any relation to clinical improvement in pwMS., Design: The study was designed as parallel group randomized comparison of two kinds of physiotherapeutic interventions referred to healthy controls., Setting: Thirty-eight outpatients were involved in the study., Population: The study had 80 participants (38 pwMS and 42 healthy controls)., Methods: PwMS were divided into two groups and underwent a two-month physiotherapy program: Vojta reflex locomotion (VRL) or Motor program activating therapy (MPAT), (1 hour, twice a week). Functional magnetic resonance imaging (fMRI) and clinical examination was performed before and after therapy. Healthy controls underwent one fMRI examination., Results: Physiotherapy in pwMS leads to extension of brain activity in specific brain areas (cerebellum, supplementary motor areas and premotor areas) in connection with the improvement of the clinical status of individual patients after therapy (P=0.05). Greater changes (P=0.001) were registered after MPAT than after VRL. The extension of activation was a shift to the examined activation of healthy controls, whose activation was higher in the cerebellum and secondary visual area (P=0.01)., Conclusions: Neuroproprioceptive "facilitation, inhibition" physiotherapy may enhance brain activity and could involve processes connected with the processing of motion activation., Clinical Rehabilitation Impact: The study showed that facilitation approach can modulate brain activity. This could be useful for developing of effective physiotherapeutic treatment in MS.

Published
2021
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49. Ambulatory Neuroproprioceptive Facilitation and Inhibition Physical Therapy Improves Clinical Outcomes in Multiple Sclerosis and Modulates Serum Level of Neuroactive Steroids: A Two-Arm Parallel-Group Exploratory Trial.

Author

Angelova G, Skodova T, Prokopiusova T, Markova M, Hruskova N, Prochazkova M, Pavlikova M, Spanhelova S, Stetkarova I, Bicikova M, Kolatorova L, and Rasova K

Abstract

Background : Only few studies have monitored the potential of physical activity training and physical therapy to modulate the reaction of the endocrine system. In this study, the effect of neuroproprioceptive facilitation and inhibition physical therapy on clinical outcomes and neuroactive steroids production in people with multiple sclerosis was evaluated. Moreover, we were interested in the factors that influence the treatment effect., Methods: In total, 44 patients with multiple sclerosis were randomly divided into two groups. Each group underwent a different kind of two months ambulatory therapy (Motor program activating therapy and Vojta's reflex locomotion). During the following two months, participants were asked to continue the autotherapy. Primary (serum level of cortisol, cortisone, 7α-OH-DHEA, 7β-OH-DHEA, 7-oxo-DHEA, DHEA) and secondary (balance, cognition and patient-reported outcomes) outcomes were examined three times (pre, post, and washout assessments)., Results: In both groups, there is a decreasing trend of 7-oxo-DHEA concentration in post-assessment and 7β-OH-DHEA in washout versus pre-assessment. A higher impact on neuroactive steroids is visible after Vojta's reflex locomotion. As for clinical outcomes, the Paced Auditory Serial Addition Test and Multiple Sclerosis Impact Scale significantly improved between post-assessment and washout assessment. The improvement was similar for both treatments., Conclusions: Neuroproprioceptive facilitation and inhibition improved the clinical outcomes and led to non-significant changes in neuroactive steroids. Trial registration (NCT04379193).

Published
2020
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50. Evaluation of the Influence of Genetic Variants of SLC2A9 (GLUT9) and SLC22A12 (URAT1) on the Development of Hyperuricemia and Gout.

Author

Pavelcova K, Bohata J, Pavlikova M, Bubenikova E, Pavelka K, and Stiburkova B

Abstract

Urate transporters, which are located in the kidneys, significantly affect the level of uric acid in the body. We looked at genetic variants of genes encoding the major reabsorption proteins GLUT9 ( SLC2A9 ) and URAT1 ( SLC22A12 ) and their association with hyperuricemia and gout. In a cohort of 250 individuals with primary hyperuricemia and gout, we used direct sequencing to examine the SLC22A12 and SLC2A9 genes. Identified variants were evaluated in relation to clinical data, biochemical parameters, metabolic syndrome criteria, and our previous analysis of the major secretory urate transporter ABCG2. We detected seven nonsynonymous variants of SLC2A9 . There were no nonsynonymous variants of SLC22A12 . Eleven variants of SLC2A9 and two variants of SLC22A12 were significantly more common in our cohort than in the European population ( p = 0), while variants p.V282I and c.1002+78A>G had a low frequency in our cohort ( p = 0). Since the association between variants and the level of uric acid was not demonstrated, the influence of variants on the development of hyperuricemia and gout should be evaluated with caution. However, consistent with the findings of other studies, our data suggest that p.V282I and c.1002+78A>G ( SLC2A9 ) reduce the risk of gout, while p.N82N ( SLC22A12 ) increases the risk.

Published
2020
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